N30T (p.Asn30Thr) variant of CRB1 (Protein crumbs homolog 1)
N30T (p.Asn30Thr) in CRB1 (Protein crumbs homolog 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
N30T (p.Asn30Thr) variant details
- p.Asn30Thr
- rs774842265
- NCI-TCGA Cosmic COSV6633
- ExAC rs774842265
- TOPMed rs774842265
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.54
- MetaLR 0.84
- MetaSVM 0.82
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available